CFTR report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0055085Biological processtransmembrane transport
GO_0034976Biological processresponse to endoplasmic reticulum stress
GO_1902161Biological processpositive regulation of cyclic nucleotide-gated ion channel activity
GO_0048240Biological processsperm capacitation
GO_1902943Biological processpositive regulation of voltage-gated chloride channel activity
GO_0050891Biological processmulticellular organismal-level water homeostasis
GO_0051649Biological processestablishment of localization in cell
GO_0035774Biological processpositive regulation of insulin secretion involved in cellular response to glucose stimulus
GO_0060081Biological processmembrane hyperpolarization
GO_0006904Biological processvesicle docking involved in exocytosis
GO_0071320Biological processcellular response to cAMP
GO_1902476Biological processchloride transmembrane transport
GO_1904322Biological processcellular response to forskolin
GO_0070175Biological processpositive regulation of enamel mineralization
GO_0051454Biological processintracellular pH elevation
GO_0015701Biological processbicarbonate transport
GO_0006695Biological processcholesterol biosynthetic process
GO_0097186Biological processamelogenesis
GO_0045921Biological processpositive regulation of exocytosis
GO_0030301Biological processcholesterol transport
GO_0035377Biological processtransepithelial water transport
GO_0016324Cellular componentapical plasma membrane
GO_0005886Cellular componentplasma membrane
GO_0016020Cellular componentmembrane
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0055037Cellular componentrecycling endosome
GO_0005769Cellular componentearly endosome
GO_0031901Cellular componentearly endosome membrane
GO_0032991Cellular componentprotein-containing complex
GO_0055038Cellular componentrecycling endosome membrane
GO_0030669Cellular componentclathrin-coated endocytic vesicle membrane
GO_0009986Cellular componentcell surface
GO_0005829Cellular componentcytosol
GO_0034707Cellular componentchloride channel complex
GO_0005737Cellular componentcytoplasm
GO_0010008Cellular componentendosome membrane
GO_0030660Cellular componentGolgi-associated vesicle membrane
GO_0005765Cellular componentlysosomal membrane
GO_0005634Cellular componentnucleus
GO_0019899Molecular functionenzyme binding
GO_0140359Molecular functionABC-type transporter activity
GO_0043225Molecular functionATPase-coupled inorganic anion transmembrane transporter activity
GO_0106138Molecular functionSec61 translocon complex binding
GO_0017081Molecular functionchloride channel regulator activity
GO_0030165Molecular functionPDZ domain binding
GO_0051087Molecular functionprotein-folding chaperone binding
GO_0015106Molecular functionbicarbonate transmembrane transporter activity
GO_0015108Molecular functionchloride transmembrane transporter activity
GO_0005524Molecular functionATP binding
GO_0016853Molecular functionisomerase activity
GO_0042626Molecular functionATPase-coupled transmembrane transporter activity
GO_0019869Molecular functionchloride channel inhibitor activity
GO_0005260Molecular functionintracellularly ATP-gated chloride channel activity
GO_0005515Molecular functionprotein binding
GO_0016887Molecular functionATP hydrolysis activity
GO_0005254Molecular functionchloride channel activity

IV. Literature review

[source]
Gene nameCFTR
Protein nameCystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7 (Cystic fibrosis transmembrane conductance regulator/ATP-binding cassette sub-family C member 7)
Cystic fibrosis transmembrane conductance regulator
CFTR
Cystic fibrosis transmembrane conductance regulator ATP-binding cassette sub-family C member 7 mutant
Cystic fibrosis transmembrane conductance regulating (EC 3.6.3.49)
Mutant cystic fibrosis transmembrane conductance regulator (EC 3.6.3.49)
Cystic fibrosis transmembrane conductance regulator ATP-binding cassette subfamily C member 7
Cystic fibrosis transmembrane conductance regulator (EC 5.6.1.6) (ATP-binding cassette sub-family C member 7) (Channel conductance-controlling ATPase) (cAMP-dependent chloride channel)
CFTR (Cystic fibrosis transmembrane conductance regulator)
Cystic fibrosis transmembrane conductance regulator (EC 3.6.3.49)
Cystic fibrosis transmembrane conductance regulator (CFTR) (ATP-binding cassette sub-family C member 7) (Channel conductance-controlling ATPase) (EC 5.6.1.6) (cAMP-dependent chloride channel)
CF transmembrane conductance regulator
SynonymsABCC7
DescriptionFUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis . Mediates the transport of chloride ions across the cell membrane . Channel activity is coupled to ATP hydrolysis . The ion channel is also permeable to HCO(3)(-); selectivity depends on the extracellular chloride concentration . Exerts its function also by modulating the activity of other ion channels and transporters . Plays an important role in airway fluid homeostasis . Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens . Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex . Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G . Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G . May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 . Can inhibit the chloride channel activity of ANO1 . Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation . .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

FUNCTION: Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer. .

AccessionsQ20BI6
A0A0A7MBI3
Q6KEH3
ENST00000649781.2 [P13569-2]
ENST00000689011.1
ENST00000648260.1
Q6KEF1
A0A096ZUC4
A0A096ZUB7
Q6KEC8
Q6KEH8
Q20BI4
Q6KEH9
Q6KEI7
ENST00000699599.1
Q9UML8
A0A8V8TQ89
Q6KEJ1
Q9UJ19
Q19Q54
A0A060KPS6
A0A3B3ITE0
Q5I6F9
A0A096ZUB9
ENST00000685018.2
ENST00000647978.2
Q6KED3
A0A088T1A1
Q6KEA5
ENST00000003084.11 [P13569-1]
A0A8V8TNH2
H0Y8A9
A0A3G1KLT7
Q2I0A9
Q6KEG9
Q6KEB2
O00717
ENST00000699600.1
ENST00000699585.1
A0A3B3ITW0
A0A096ZUB8
A0A159X613
ENST00000649406.1
A0A089PPW6
Q9NP06
Q6KEC3
Q20BH0
Q6KEA0
Q6KEF5
Q9UML7
ENST00000446805.2
A0A8V8TNN7
Q6KEI8
P13569
ENST00000426809.5
ENST00000687278.2
ENST00000699601.1
Q6KEG3
A0A8V8TNN0
ENST00000699596.1
A0A089NFM8
Q6KEF9
A0A1B0YU32
A0A096ZUB3
ENST00000673785.1
ENST00000600166.1
A0A8I5KVL1
Q6KEJ4
Q5I6N6
ENST00000699604.1
ENST00000699602.1
Q9NP07
A0A8I5KXQ9
Q6KEJ7
A0A8I5KVV2
ENST00000699605.1
ENST00000699597.1
Q5I6N7
A0A0A7MBS8
Q6KEG6
Q6KEI2
Q2I0A3
A0A0A7MGQ3
ENST00000699598.1
M0QYZ3
Q6KEE7
Q5I6N5
Q6KEH6
ENST00000647720.2
A0A096ZUC0
Q6KE95
Q20BJ8
A0A669KBE8
A0A096ZUH4
Q6KEE3
Q6KEB8
A0A3B3ITW5
A0A8V8TNG7
A0A3B3IT97
Q9UMN4
C9J6L5
ENST00000468795.1
Q99989
Q5I6N4
ENST00000649850.2
Q6KED8
E7EPB6
A0A8V8TQ94
A0A8V8TPV6